Mutagenetix > Incidental Mutation

Incidental Mutation 'R4953:Atp1a2'

381351

Institutional Source

Beutler Lab

Gene Symbol

Atp1a2

Ensembl Gene

ENSMUSG00000007097

Gene Name

ATPase, Na+/K+ transporting, alpha 2 polypeptide

Synonyms

Atpa-3

MMRRC Submission

042550-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4953 (G1)

Quality Score

220

Status

Validated

Chromosome

Chromosomal Location

172099276-172125631 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 172119009 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134280 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085913] [ENSMUST00000097464] [ENSMUST00000139528]

AlphaFold

Q6PIE5

Predicted Effect

probably benign
Transcript: ENSMUST00000085913

SMART Domains

Protein: ENSMUSP00000083077
Gene: ENSMUSG00000007097

Domain	Start	End	E-Value	Type
low complexity region	22	36	N/A	INTRINSIC
Cation_ATPase_N	40	114	5.28e-19	SMART
Pfam:E1-E2_ATPase	132	363	2.5e-59	PFAM
Pfam:Hydrolase	368	726	4.5e-19	PFAM
Pfam:HAD	371	723	3.2e-18	PFAM
Pfam:Cation_ATPase	424	518	1.9e-25	PFAM
Pfam:Cation_ATPase_C	796	1005	1.4e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000097464

SMART Domains

Protein: ENSMUSP00000095072
Gene: ENSMUSG00000007097

Domain	Start	End	E-Value	Type
low complexity region	22	36	N/A	INTRINSIC
Cation_ATPase_N	40	114	5.28e-19	SMART
Pfam:E1-E2_ATPase	133	364	1.9e-63	PFAM
Pfam:Hydrolase	368	726	2e-32	PFAM
Pfam:HAD	371	723	1.7e-15	PFAM
Pfam:Hydrolase_like2	424	518	1.3e-26	PFAM
Pfam:Cation_ATPase_C	796	947	3.2e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131751

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137679

SMART Domains

Protein: ENSMUSP00000117873
Gene: ENSMUSG00000007097

Domain	Start	End	E-Value	Type
low complexity region	22	36	N/A	INTRINSIC
Cation_ATPase_N	40	114	5.28e-19	SMART
Pfam:E1-E2_ATPase	133	364	1.2e-63	PFAM
Pfam:Hydrolase	368	613	8.5e-9	PFAM
Pfam:Hydrolase_like2	424	518	5.7e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139528

SMART Domains

Protein: ENSMUSP00000134280
Gene: ENSMUSG00000038034

Domain	Start	End	E-Value	Type
IG_like	19	84	3.66e1	SMART
low complexity region	92	103	N/A	INTRINSIC
IG	106	222	2.3e-3	SMART
IG	246	370	9.49e-5	SMART
IG	382	508	3.59e-5	SMART
transmembrane domain	515	537	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155363

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

97% (113/116)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 2 subunit. Mutations in this gene result in familial basilar or hemiplegic migraines, and in a rare syndrome known as alternating hemiplegia of childhood. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous mutants die immediately after birth from breathing failure, lack spontaneous respiratory rhythm activity, have elevated levels of extracellular GABA in the brain, and have abnormal chloride homeostasis in brainstem neurons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	C	3: 36,128,525 (GRCm39)	Y129H	probably damaging	Het
Adcy4	C	T	14: 56,016,486 (GRCm39)	D322N	probably damaging	Het
Adgre1	G	A	17: 57,748,321 (GRCm39)	G507E	probably damaging	Het
Agpat5	G	A	8: 18,918,971 (GRCm39)	V118I	probably benign	Het
Aif1	T	C	17: 35,390,074 (GRCm39)		probably null	Het
Akr1c6	A	T	13: 4,488,608 (GRCm39)		probably null	Het
Akt2	T	A	7: 27,337,597 (GRCm39)		probably null	Het
Ankrd35	T	A	3: 96,590,989 (GRCm39)	L425Q	possibly damaging	Het
Arhgap40	A	G	2: 158,385,326 (GRCm39)	T520A	possibly damaging	Het
Arhgef28	T	A	13: 98,066,062 (GRCm39)	D1597V	possibly damaging	Het
Aspm	A	G	1: 139,399,472 (GRCm39)	D1079G	probably benign	Het
Cage1	C	A	13: 38,207,406 (GRCm39)	E252D	possibly damaging	Het
Ccdc185	A	G	1: 182,576,582 (GRCm39)	S36P	possibly damaging	Het
Cd300a	T	C	11: 114,784,247 (GRCm39)	V85A	probably damaging	Het
Cd38	A	C	5: 44,064,887 (GRCm39)	D235A	possibly damaging	Het
Cdcp1	T	C	9: 123,009,088 (GRCm39)	K530R	probably benign	Het
Ceacam20	T	A	7: 19,705,651 (GRCm39)	L214Q	probably damaging	Het
Cntn4	G	A	6: 106,502,379 (GRCm39)	A379T	probably benign	Het
Col4a2	A	T	8: 11,479,505 (GRCm39)	E796V	probably benign	Het
Copa	A	G	1: 171,910,453 (GRCm39)		probably benign	Het
Cpa5	A	G	6: 30,631,363 (GRCm39)	T426A	possibly damaging	Het
Csmd1	A	G	8: 16,249,931 (GRCm39)	F1016L	probably damaging	Het
Cyb5r3	A	T	15: 83,042,822 (GRCm39)	L290*	probably null	Het
Ddx42	A	G	11: 106,133,766 (GRCm39)	T581A	probably damaging	Het
Deaf1	C	T	7: 140,902,381 (GRCm39)	G221S	probably damaging	Het
Dnah6	A	G	6: 73,165,366 (GRCm39)	S580P	probably benign	Het
Dock1	A	G	7: 134,754,017 (GRCm39)	E1598G	probably benign	Het
Drg2	T	C	11: 60,350,262 (GRCm39)		probably benign	Het
Eif3f	C	A	7: 108,533,847 (GRCm39)		probably benign	Het
Fam184a	G	T	10: 53,574,901 (GRCm39)	T236K	probably benign	Het
Gas7	C	T	11: 67,550,876 (GRCm39)	T126M	possibly damaging	Het
Gckr	T	G	5: 31,465,608 (GRCm39)	F408C	probably damaging	Het
Gm17472	A	G	6: 42,958,004 (GRCm39)	D91G	probably damaging	Het
Gm5117	G	A	8: 32,228,608 (GRCm39)		noncoding transcript	Het
Gsto1	T	A	19: 47,843,759 (GRCm39)	I47N	probably damaging	Het
Hck	C	T	2: 152,976,597 (GRCm39)	P244S	probably damaging	Het
Hif3a	T	C	7: 16,784,490 (GRCm39)	T250A	probably damaging	Het
Hmcn1	A	T	1: 150,752,111 (GRCm39)		probably benign	Het
Impa1	G	A	3: 10,380,340 (GRCm39)	S247F	probably damaging	Het
Ints14	G	C	9: 64,889,340 (GRCm39)	R397P	probably damaging	Het
Iqgap1	T	C	7: 80,373,524 (GRCm39)		probably null	Het
Krt1c	T	C	15: 101,722,377 (GRCm39)	K436R	probably damaging	Het
Lama3	G	A	18: 12,581,362 (GRCm39)	C607Y	probably damaging	Het
Loxl4	G	T	19: 42,599,133 (GRCm39)		probably benign	Het
Lrrc8d	C	T	5: 105,961,234 (GRCm39)	T548M	probably damaging	Het
Man1b1	T	A	2: 25,228,196 (GRCm39)	D155E	probably damaging	Het
Mapk8ip2	C	T	15: 89,341,431 (GRCm39)	P214L	probably benign	Het
Mast1	G	A	8: 85,645,357 (GRCm39)	T696I	probably damaging	Het
Muc15	C	T	2: 110,561,617 (GRCm39)	P18S	probably damaging	Het
Mybl2	T	C	2: 162,922,716 (GRCm39)	S205P	probably damaging	Het
Mylk	T	C	16: 34,809,331 (GRCm39)	S1763P	probably damaging	Het
Nek10	T	A	14: 14,860,986 (GRCm38)	L513M	possibly damaging	Het
Nfib	A	G	4: 82,271,808 (GRCm39)	M252T	probably benign	Het
Nid2	C	A	14: 19,828,146 (GRCm39)	Y261*	probably null	Het
Nmd3	C	T	3: 69,638,970 (GRCm39)	R187C	possibly damaging	Het
Nomo1	G	T	7: 45,700,155 (GRCm39)		probably benign	Het
Npy4r	A	G	14: 33,868,437 (GRCm39)	F284L	probably damaging	Het
Nt5dc2	T	C	14: 30,860,878 (GRCm39)	V351A	possibly damaging	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or5b121	T	A	19: 13,507,178 (GRCm39)	L91Q	probably null	Het
Or5g27	T	A	2: 85,410,069 (GRCm39)	L162*	probably null	Het
Pcdhb12	T	A	18: 37,569,209 (GRCm39)	D118E	probably damaging	Het
Pdcd11	C	T	19: 47,116,404 (GRCm39)	T1518I	probably benign	Het
Pde6a	T	A	18: 61,364,434 (GRCm39)	C163*	probably null	Het
Pign	A	T	1: 105,572,227 (GRCm39)	W314R	probably benign	Het
Pip5k1b	T	A	19: 24,367,799 (GRCm39)	H76L	probably damaging	Het
Plcz1	T	C	6: 139,974,277 (GRCm39)	N55S	possibly damaging	Het
Pou5f1	A	T	17: 35,821,438 (GRCm39)	H350L	possibly damaging	Het
Rchy1	A	T	5: 92,110,487 (GRCm39)		probably null	Het
Ric8b	A	G	10: 84,793,946 (GRCm39)	T270A	possibly damaging	Het
Rprml	A	G	11: 103,540,644 (GRCm39)	E13G	probably benign	Het
Secisbp2	T	A	13: 51,836,063 (GRCm39)	I719N	probably damaging	Het
Sergef	C	T	7: 46,283,259 (GRCm39)	R148H	probably benign	Het
Serpina6	T	A	12: 103,618,221 (GRCm39)		probably null	Het
Sirpb1b	C	A	3: 15,613,887 (GRCm39)	W65L	probably damaging	Het
Slc32a1	A	T	2: 158,455,977 (GRCm39)	I211F	possibly damaging	Het
Slc5a9	C	A	4: 111,748,941 (GRCm39)		probably null	Het
Smarce1	A	G	11: 99,105,977 (GRCm39)	V226A	probably benign	Het
Spata31d1b	A	T	13: 59,864,097 (GRCm39)	E415V	probably damaging	Het
Speg	G	A	1: 75,400,508 (GRCm39)	R2556H	possibly damaging	Het
Suclg2	A	C	6: 95,543,417 (GRCm39)	V338G	probably damaging	Het
Tarbp1	T	C	8: 127,174,184 (GRCm39)	E874G	possibly damaging	Het
Tex14	G	T	11: 87,427,727 (GRCm39)		probably null	Het
Trim36	T	A	18: 46,329,245 (GRCm39)	D53V	possibly damaging	Het
Tsga10ip	T	A	19: 5,444,368 (GRCm39)	Y21F	possibly damaging	Het
Ttn	C	T	2: 76,620,289 (GRCm39)	V15849M	probably damaging	Het
Ube3b	T	C	5: 114,539,471 (GRCm39)	S421P	probably benign	Het
Unc5a	A	T	13: 55,147,683 (GRCm39)	M498L	probably benign	Het
Vipr2	A	G	12: 116,107,876 (GRCm39)	I420M	probably benign	Het
Vmn1r179	T	A	7: 23,628,515 (GRCm39)	H235Q	probably damaging	Het
Vps35	T	A	8: 86,008,475 (GRCm39)	I267F	probably damaging	Het
Wdr26	G	A	1: 181,025,216 (GRCm39)	R279W	probably damaging	Het
Xpo6	C	A	7: 125,768,443 (GRCm39)	R88L	probably damaging	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 106,210,376 (GRCm39)		probably null	Het
Zfp105	T	A	9: 122,758,880 (GRCm39)	S184T	probably benign	Het
Zfp574	G	A	7: 24,780,388 (GRCm39)	R470H	probably damaging	Het
Zswim9	T	A	7: 13,003,484 (GRCm39)	H122L	probably damaging	Het

Other mutations in Atp1a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Atp1a2	APN	1	172,103,569 (GRCm39)	missense	probably damaging	1.00
IGL00954:Atp1a2	APN	1	172,118,201 (GRCm39)	missense	probably damaging	1.00
IGL01083:Atp1a2	APN	1	172,112,186 (GRCm39)	missense	probably benign
IGL01372:Atp1a2	APN	1	172,106,510 (GRCm39)	missense	probably damaging	1.00
IGL01762:Atp1a2	APN	1	172,112,480 (GRCm39)	missense	possibly damaging	0.89
IGL01896:Atp1a2	APN	1	172,113,578 (GRCm39)	missense	probably damaging	1.00
IGL01942:Atp1a2	APN	1	172,113,876 (GRCm39)	missense	probably benign	0.35
IGL01944:Atp1a2	APN	1	172,103,754 (GRCm39)	missense	probably damaging	0.98
IGL02219:Atp1a2	APN	1	172,107,298 (GRCm39)	nonsense	probably null
IGL02219:Atp1a2	APN	1	172,107,285 (GRCm39)	missense	probably damaging	1.00
IGL02304:Atp1a2	APN	1	172,116,920 (GRCm39)	missense	probably benign
IGL02507:Atp1a2	APN	1	172,113,338 (GRCm39)	missense	probably damaging	1.00
IGL02557:Atp1a2	APN	1	172,106,218 (GRCm39)	missense	possibly damaging	0.83
IGL02632:Atp1a2	APN	1	172,108,181 (GRCm39)	missense	possibly damaging	0.89
IGL03053:Atp1a2	APN	1	172,105,923 (GRCm39)	missense	probably damaging	1.00
IGL03104:Atp1a2	APN	1	172,120,934 (GRCm39)	missense	probably damaging	0.97
IGL03161:Atp1a2	APN	1	172,106,429 (GRCm39)	intron	probably benign
IGL03218:Atp1a2	APN	1	172,116,870 (GRCm39)	missense	probably null	0.82
PIT4151001:Atp1a2	UTSW	1	172,118,288 (GRCm39)	missense	probably damaging	0.99
PIT4520001:Atp1a2	UTSW	1	172,106,941 (GRCm39)	missense	probably benign	0.00
R0121:Atp1a2	UTSW	1	172,116,909 (GRCm39)	missense	probably damaging	0.99
R0630:Atp1a2	UTSW	1	172,118,842 (GRCm39)	missense	possibly damaging	0.78
R0682:Atp1a2	UTSW	1	172,112,164 (GRCm39)	missense	probably benign	0.00
R0755:Atp1a2	UTSW	1	172,116,948 (GRCm39)	missense	probably benign	0.37
R1413:Atp1a2	UTSW	1	172,106,911 (GRCm39)	missense	probably damaging	1.00
R1680:Atp1a2	UTSW	1	172,106,521 (GRCm39)	missense	probably damaging	0.99
R2094:Atp1a2	UTSW	1	172,115,000 (GRCm39)	missense	probably damaging	1.00
R3714:Atp1a2	UTSW	1	172,106,551 (GRCm39)	missense	probably damaging	0.96
R4573:Atp1a2	UTSW	1	172,106,204 (GRCm39)	missense	possibly damaging	0.75
R4928:Atp1a2	UTSW	1	172,105,954 (GRCm39)	missense	possibly damaging	0.93
R5014:Atp1a2	UTSW	1	172,112,438 (GRCm39)	missense	probably benign	0.05
R5080:Atp1a2	UTSW	1	172,112,012 (GRCm39)	intron	probably benign
R5129:Atp1a2	UTSW	1	172,103,522 (GRCm39)	missense	probably benign	0.02
R5360:Atp1a2	UTSW	1	172,106,436 (GRCm39)	critical splice donor site	probably null
R5619:Atp1a2	UTSW	1	172,106,948 (GRCm39)	missense	probably damaging	0.99
R5622:Atp1a2	UTSW	1	172,118,994 (GRCm39)	intron	probably benign
R5718:Atp1a2	UTSW	1	172,107,009 (GRCm39)	missense	probably damaging	1.00
R5729:Atp1a2	UTSW	1	172,120,938 (GRCm39)	missense	probably damaging	0.99
R5909:Atp1a2	UTSW	1	172,114,797 (GRCm39)	missense	probably damaging	1.00
R6018:Atp1a2	UTSW	1	172,125,579 (GRCm39)	intron	probably benign
R6145:Atp1a2	UTSW	1	172,114,805 (GRCm39)	missense	probably damaging	1.00
R6164:Atp1a2	UTSW	1	172,106,459 (GRCm39)	missense	probably damaging	0.97
R6315:Atp1a2	UTSW	1	172,116,903 (GRCm39)	missense	probably damaging	0.99
R6317:Atp1a2	UTSW	1	172,116,903 (GRCm39)	missense	probably damaging	0.99
R6319:Atp1a2	UTSW	1	172,116,903 (GRCm39)	missense	probably damaging	0.99
R6323:Atp1a2	UTSW	1	172,116,903 (GRCm39)	missense	probably damaging	0.99
R6324:Atp1a2	UTSW	1	172,116,903 (GRCm39)	missense	probably damaging	0.99
R6374:Atp1a2	UTSW	1	172,116,942 (GRCm39)	missense	probably damaging	1.00
R6764:Atp1a2	UTSW	1	172,112,181 (GRCm39)	missense	probably benign
R6812:Atp1a2	UTSW	1	172,112,444 (GRCm39)	missense	probably benign	0.20
R7025:Atp1a2	UTSW	1	172,112,117 (GRCm39)	nonsense	probably null
R7194:Atp1a2	UTSW	1	172,108,194 (GRCm39)	nonsense	probably null
R7459:Atp1a2	UTSW	1	172,114,862 (GRCm39)	missense	probably benign	0.00
R7791:Atp1a2	UTSW	1	172,103,782 (GRCm39)	missense	probably benign	0.28
R7889:Atp1a2	UTSW	1	172,105,631 (GRCm39)	splice site	probably null
R7993:Atp1a2	UTSW	1	172,118,878 (GRCm39)	missense	possibly damaging	0.86
R8183:Atp1a2	UTSW	1	172,116,918 (GRCm39)	missense	probably damaging	0.96
R8434:Atp1a2	UTSW	1	172,112,179 (GRCm39)	missense	probably benign	0.01
R8712:Atp1a2	UTSW	1	172,103,547 (GRCm39)	missense	probably benign	0.05
R8724:Atp1a2	UTSW	1	172,106,945 (GRCm39)	missense	probably benign	0.13
R8887:Atp1a2	UTSW	1	172,113,222 (GRCm39)	missense	probably null	0.02
R8965:Atp1a2	UTSW	1	172,107,612 (GRCm39)	missense	probably benign	0.25
R9322:Atp1a2	UTSW	1	172,107,625 (GRCm39)	missense	possibly damaging	0.94
R9383:Atp1a2	UTSW	1	172,107,334 (GRCm39)	missense	probably benign
R9451:Atp1a2	UTSW	1	172,103,494 (GRCm39)	missense	probably benign
R9485:Atp1a2	UTSW	1	172,105,822 (GRCm39)	makesense	probably null
R9727:Atp1a2	UTSW	1	172,118,936 (GRCm39)	missense	probably benign	0.01
Z1176:Atp1a2	UTSW	1	172,107,321 (GRCm39)	missense	possibly damaging	0.90
Z1177:Atp1a2	UTSW	1	172,114,903 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCCAGGATACCATAGGCTAAG -3'
(R):5'- CAAGAATAACCCAGGTGGAGCC -3'

Sequencing Primer
(F):5'- AGCAGAGGAGTGCCCCAATC -3'
(R):5'- GAGCCACAGTGAGTCCATATTAGC -3'

Posted On

2016-04-27